ClinVar Miner

Variants in gene STIM1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
15 2 187 77 22 1 289

Condition and significance breakdown #

Total conditions: 9
Download table as spreadsheet
Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 4 1 134 58 18 0 215
Myopathy, tubular aggregate, 1; Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency 2 0 38 2 0 0 42
not provided 1 0 12 24 0 0 36
not specified 0 0 2 12 8 0 21
Combined immunodeficiency due to STIM1 deficiency 5 0 6 0 0 0 11
Myopathy, tubular aggregate, 1 6 0 1 0 0 0 7
Stormorken syndrome 2 1 0 0 0 1 3
Migraine 0 0 1 0 0 0 1
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 19
Download table as spreadsheet
Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 6 1 167 67 18 0 259
GeneDx 0 0 2 10 6 0 18
PreventionGenetics, PreventionGenetics 0 0 0 6 8 0 14
OMIM 12 0 0 0 0 0 12
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 4 1 0 0 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 5 0 0 0 5
New York Genome Center 0 0 4 0 0 0 4
Baylor Genetics 1 0 1 0 0 0 2
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 0 1 0 1 0 2
Blueprint Genetics 0 0 2 0 0 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 2 0 0 0 2
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 2 0 0 0 2
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 1 0 0 0 1
Institute of Human Genetics, RWTH University Hospital Aachen 0 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 1 0 0 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 1 0 0 0 0 0 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 1 0 0 0 0 1

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.